Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.V236Splc
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EVC2

NM_147127.5:p.V236Splc

Associated Papers

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

Shen W et al.

American Journal of Medical Genetics. Part A, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."